Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.360 None 1.000 7 1997 2010
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.350 None 1.000 5 1 1996 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.340 None 1.000 4 1 2001 2008
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		disease Cardiovascular Diseases Disease or Syndrome 41 60 0.330 None 1.000 3 2005 2018
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.320 None 1.000 3 1995 2008
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.320 None 1.000 3 2004 2009
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 40 875 0.320 None 1.000 3 1998 2004
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.320 None 1.000 3 1998 2018
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.320 None 1.000 2 1 2008 2012
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.310 None 1.000 2 2004 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2008 2008
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 2 2005 2006
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 2 1995 2015
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 2006 2006
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 2 1995 2015
CUI: C0496899
Disease: Benign neoplasm of brain, unspecified
Benign neoplasm of brain, unspecified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 2017 2017
CUI: C0018984
Disease: Hemicrania migraine
Hemicrania migraine 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.300 None 1.000 1 2000 2000
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.300 None 1.000 1 2017 2017
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.300 None 1.000 1 2017 2017
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 2 0.300 None 1.000 1 2006 2006
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.300 None 1.000 1 2006 2006
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C0700438
Disease: Sick Headaches
Sick Headaches 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C0279530
Disease: Malignant Bone Neoplasm
Malignant Bone Neoplasm 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 125 0.300 None 1.000 1 2006 2006